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CTNNB1 S33F
GeneCTNNB1
Variantmissense
Amino Acid ChangeS33F
Transcript ID (GRCh37/hg19)ENST00000349496
Codon33
Exon3
Genomic Coordinates (GRCh37/hg19)3:41266101-41266101
COSMIC ID5669
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
CTNNB1
Variants
CTNNB1 S33F
Primary Sites
Prostate
Tumor Types
Adenocarcinoma
Interpretation

Beta catenin is a transcriptional co-regulator and an adapter protein for cellular adhesion; it comprises part of the Wnt signaling pathway and intracellular levels of beta-catenin are regulated by its phosphorylation, ubiquitination and proteosomal degradation. Accumulation of nuclear beta catenin can lead to a tumoral phenotype and oncogenic transformation in a variety of solid tumors. Various oncogenic mutants of beta catenin have been found in different tumor types which alter its degradation, leading to its accumulation and promoting tumor growth. CTNNB1 mutations in prostate cancer occur rarely, in only 2-5% of cases. Currently, the function of b-Catenin in human prostate cancer continues to be explored. In the context of prostate, b-Catenin may modulate the androgen receptor (AR) pathway. This particular variant S33F is predicted to confer a gain of function to the CTNNB1 protein as demonstrated by nuclear accumulation of CTNNB1. Clinical correlation is recommended.

Last updated: 2019-01-22 19:23:08 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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